ClinVar Miner

List of variants reported as pathogenic for dysostosis by Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NC_000017.11:g.44852563dup
NM_001104631.2(PDE4D):c.674C>T (p.Pro225Leu)
NM_021224.6(ZNF462):c.2029del (p.Arg677fs) rs2131465180

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.